Publications:

Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes.

Jacc. Case Reports

Derenbecker, Robert R; Kapoor, Karan K; Brown, Emily E; Leucker, Thorsten T; Jones, Steven R SR; Lokhandwala, Parvez M PM; Byrne, Kathleen H KH; Martin, Seth S SS

Publication Date: 2019-10

Variant appearance in text: LDLR: 202T>C; Cys68Arg

PubMed Link: 34316823

Variant Present in the following documents:

• Main text
• main.pdf

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Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants.

Human Genetics

Khanna, Tarun T; Hanna, Gordon G; Sternberg, Michael J E MJE; David, Alessia A

Publication Date: 2021-05

Variant appearance in text: LDLR: Cys68Arg

PubMed Link: 33502607

Variant Present in the following documents:

• Main text
• 439_2020_Article_2246.pdf

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Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH

Publication Date: 2020-11

Variant appearance in text: LDLR: 202T>C

PubMed Link: 32665702

Variant Present in the following documents:

• 41436_2020_Article_900.pdf

View BVdb publication page